Results 71 to 80 of about 378,673 (266)

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Mental Health Stigma in Psychiatric Genetics: Insights and Recommendations From the ISPG Member Survey on Stigma

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Little is known about how stigma is perceived within psychiatric genetics, a field increasingly central to public discussions about heredity, neurodiversity, and psychiatric risk. Understanding how stigma is perceived and experienced by psychiatric geneticists is important for guiding responsible communication and future stigma‐reduction ...
Anaïs B. Thijssen, Elleke Tissink, Reeteka Sud, Mandy Johnstone, Richard Josiassen, Andrea Lahti, Laura Huckins, Ariana Page, Stigma Reduction Interest Group of the ISPG, Jordan W. Smoller, Jehannine Austin, Janneke Zinkstok, Sarah E. Medland, Rada Veeneman, Anna R. Docherty   +14 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Barriers and Enablers for Effective Support Coordination in the National Disability Insurance Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT Support coordinators act as intermediaries between the National Disability Insurance Scheme (NDIS) and participants, facilitating access to funded supports. To optimise outcomes, they must navigate NDIS complexities, identify services that meet individual needs and engage with diverse stakeholders.
Sharyn McDonald, Lee Cubis, Di Winkler, Jacinta Douglas   +3 more
wiley   +1 more source

Ac‐SDKP modulates apoptosis via HSP27 and the FAS/FASL and mitochondrial axes

Animal Models and Experimental Medicine, EarlyView.
Schematic diagram of Ac‐SDKP regulating the FAS/FASL and mitochondrial apoptosis pathways via HSP27. Ac‐SDKP inhibits HSP27 expression, activates the FAS/FASL pathway and Caspase‐3 signaling, increases Caspase‐8 and Caspase‐3 expression, and induces cell apoptosis.
Wenxin Guo, Jinyin Yan, Wenli Li, Jin Wang, Lu Liu, Chengmei Zhang, Wei Cao, Shanshan Yao, Haibo Gong, Yi He, Zihan Zhou, Siyan Chen, Li Feng, Haijing Deng   +13 more
wiley   +1 more source

Assessing Progression Independent of Relapse Activity in Multiple Sclerosis Using a Patient‐Reported Disability Measure and Self‐Administered Neuroperformance Outcomes

Annals of Neurology, EarlyView.
Objective The objective of this study was to investigate the ability of patient‐reported/administered outcomes to capture disability worsening and progression independent of relapse activity (PIRA) in multiple sclerosis (MS). Methods We included patients from the longitudinal multicenter MS PATHS cohort with ≥3 assessments and >6 months follow‐up. PIRA
Evy M. Reinders, Ariadna Masot‐Llima, Susana Otero‐Romero, René Carvajal, Álvaro Cobo‐Calvo, Pere Carbonell‐Mirabent, Jordina Beltran, Maria Jesús Arévalo, Helena Ariño, Georgina Arrambide, Cristina Auger, Luca Bollo, Joaquín Castilló, Manuel Comabella, Ingrid Galán, Alexis García‐Sarreón, Andrew Goodman, Carrie M. Hersh, Delon La Puma, Le H. Hua, Luciana Midaglia, Neus Mongay‐Ochoa, Ellen M. Mowry, Agustín Pappolla, Breogán Rodríguez‐Acevedo, Jordi Río, Paula Tagliani, Ángela Vidal‐Jordana, Andreu Vilaseca, Ana Zabalza, Deborah Pareto, Carlos Nos, Menno Schoonheim, Eva Strijbis, Jaume Sastre‐Garriga, Madalina Tivarus, Tjalf Ziemssen, Àlex Rovira, Xavier Montalban, Mar Tintoré, Carmen Tur   +40 more
wiley   +1 more source

Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System

Annals of Neurology, EarlyView.
Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti, Nicolas R. Barthélemy, Kanta Horie, Cindy V. Ly, Kaleigh F. Roberts, Srinivas Koutarapu, Richard J. Perrin, Erin E. Franklin, Chiara Pedicone, Joshua Orrick, Justin Melendez, Timothy M. Miller, Chihiro Sato, Nupur Ghoshal, Alison M. Goate, Celeste M. Karch, Randall J. Bateman, Soumya Mukherjee   +17 more
wiley   +1 more source

Genetic Modifiers of ABCA1 Activity Interact with APOE Isoforms to Mediate Alzheimer's Disease Risk

Annals of Neurology, EarlyView.
Objective ATP‐binding cassette transporter A1 (ABCA1) has been associated with Alzheimer's disease (AD), but the mechanisms by which it impacts disease risk are unknown. ABCA1 is known to bind apolipoprotein E (ApoE) and catalyze apolipoprotein lipidation.
Andrés Peña‐Tauber, Ricardo Hernández Arriaza, Dylan Reil, Manon Muntaner, Junyoung Park, Benjamin Grenier‐Boley, Marc Hulsman, Philippe Amouyel, Céline Bellenguez, Camille Charbonnier, Jean‐François Deleuze, Orio Dols‐Icardo, John Hardy, Henne Holstege, Gaël Nicolas, Simon Mead, Michael Wagner, Alfredo Ramirez, Rebecca Sims, John van Swieten, Julie Willams, Jean‐Charles Lambert, Chaitan Khosla, Yann Le Guen, Michael D Greicius   +24 more
wiley   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source

A Multicenter, Open‐Label, Phase 2 Trial Comparing Crizanlizumab Combined With Standard Therapy to Standard Therapy Alone on Renal Function in Patients With Sickle Cell Nephropathy (STEADFAST)

American Journal of Hematology, EarlyView.
Kenneth I. Ataga, Pablo Bartolucci, Santosh L. Saraf, Vimal K. Derebail, Adlette Inati, Jeffrey D. Lebensburger, Laurie DeBonnett, Rodolfo D. Cancado, Claire C. Sharpe   +8 more
wiley   +1 more source